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Hyperinsulinism due to HNF4A deficiency

rare

Hyperinsulinism due to HNF4A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by macrosomia, transient or persistent hyperinsulinemic hypoglycemia (HH), responsiveness to diazoxide and a propensity to develop maturity-onset diabetes of the young subtype 1 (MODY-1).

Identifiers
MONDO:0016988 Orphanet:263455
Part of
Diazoxide-sensitive diffuse hyperinsulinism
Also known as
hyperinsulinemic hypoglycemia due to HNF4A deficiency

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